G945R (p.Gly945Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G945R (p.Gly945Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G945R (p.Gly945Arg) variant details
- p.Gly945Arg
- rs886039542
- ClinGen CA384542095
- ClinVar RCV003009755
- Pathogenic
- Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Achondrogenesis type II; Avascular necrosis of femoral head, pri)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available